Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA
复制标题
DOI：
10.1016/s0140-6736(03)14797-6
复制
发表时间：
2003-11-15
期刊：
影响因子：
168.9
通讯作者：
Young, NS
中科院分区：
文献类型：
--
作者：
Fogarty, PF;Yamaguchi, H;Young, NS
成人再生障碍性贫血通常是后天性的，但罕见的体质型骨髓衰竭可能发生在生命的后期。我们评估了两个家族发病的全血细胞减少症的成年人，并检测到两个新的点突变端粒酶RNA基因（TERC）在每个家庭。该基因在某些先天性角化不良的肾病中是异常的。我们家族中TERC突变的个体没有先天性角化不良的体征，他们的血细胞计数几乎正常，但都有严重的端粒缩短，造血功能降低，血清促红细胞生成素和促血小板生成素升高。由于先天性角化不良导致的不同严重程度的骨髓衰竭，历史上以相关的身体异常和早期全血细胞减少为特征，可能存在于其他表型正常的成人中，并可能伪装为获得性再生障碍性贫血。
Aplastic anaemia In adults is usually acquired, but rarely constitutional types of bone marrow failure can occur late In life. We assessed two families with onset of pancytopenia in adults and detected two novel point mutations in the telomerase RNA gene (TERC) in each family. This gene Is abnormal in some kindreds with dyskeratosis congenita. Individuals in our families with mutated TERC did not have physical signs of dyskeratosis congenita, and their blood counts were nearly normal, but all had severely shortened telomeres, reduced haemopoietic function, and raised serum erythropoietin and thrombopoietin. Bone marrow failure of variable severity due to dyskeratosis congenita, historically characterised by associated physical anomalies and early pancytopenia, may be present in otherwise phenotypically normal adults, and can masquerade as acquired aplastic anaemia.